Volume 62; Issue 2

The American Journal of Human Genetics

Volume 62; Issue 2

1

This Month in the Journal

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 45 KB

english, 1998

2

Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families

Laurent Cavalier, Karim Ouahchi, Herbert J. Kayden, Stephano Di Donato, Laurence Reutenauer, Jean-Louis Mandel, Michel Koenig

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 210 KB

english, 1998

3

Susceptibility to Relapsing-Progressive Multiple Sclerosis Is Associated with Inheritance of Genes Linked to the Variable Region of the TcR β Locus: Use of Affected Family-Based Controls

Michael K. Hockertz, Donald W. Paty, Steven S. Beall

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 216 KB

english, 1998

4

The Haptoglobin-Gene Deletion Responsible for Anhaptoglobinemia

Yoshiro Koda, Mikiko Soejima, Naofumi Yoshioka, Hiroshi Kimura

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 799 KB

english, 1998

5

Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y-Chromosome Polymorphisms

Giuseppe Passarino, Ornella Semino, Lluís Quintana-Murci, Laurent Excoffier, Michael Hammer, A. Silvana Santachiara-Benerecetti

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 930 KB

english, 1998

6

Topoisomerase I and II Consensus Sequences in a 17-kb Deletion Junction of the COL4A5 and COL4A6 Genes and Immunohistochemical Analysis of Esophageal Leiomyomatosis Associated with Alport Syndrome

Yasuyoshi Ueki, Ichiro Naito, Toshitaka Oohashi, Manabu Sugimoto, Tsugio Seki, Hidekatsu Yoshioka, Yoshikazu Sado, Hiroshi Sato, Takashi Sawai, Fumiaki Sasaki, Mitsumasa Matsuoka, Seiji Fukuda, Yoshif

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 2.01 MB

english, 1998

7

Absolute Pitch: An Approach for Identification of Genetic and Nongenetic Components

Siamak Baharloo, Paul A. Johnston, Susan K. Service, Jane Gitschier, Nelson B. Freimer

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 778 KB

english, 1998

8

Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients

Kit-Sing Au, Joseph A. Rodriguez, Jennifer L. Finch, Kelly A. Volcik, E. Steve Roach, Mauricio R. Delgado, Estanislado Rodriguez Jr., Hope Northrup

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 545 KB

english, 1998

9

ATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and Breast Cancer

T. Stankovic, A.M.J. Kidd, A. Sutcliffe, G.M. McGuire, P. Robinson, P. Weber, T. Bedenham, A.R. Bradwell, D.F. Easton, G.G. Lennox, N. Haites, P.J. Byrd, A.M.R. Taylor

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 458 KB

english, 1998

10

Professional Disclosure of Familial Genetic Information

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

11

Linkage of Infantile Bartter Syndrome with Sensorineural Deafness to Chromosome 1p

Theresa M.H. Brennan, Daniel Landau, Hana Shalev, Fred Lamb, Brian C. Schutte, Roxanne Y. Walder, Allyn L. Mark, Rivka Carmi, Val C. Sheffield

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 698 KB

english, 1998

12

Likelihood Analysis of Disequilibrium Mapping, and Related Problems

Bruce Rannala, Montgomery Slatkin

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 902 KB

english, 1998

13

Mitochondrial Control-Region Sequence Variation in Aboriginal Australians

Sheila M. van Holst Pellekaan, Marianne Frommer, John A. Sved, Barry Boettcher

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 2.37 MB

english, 1998

14

The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat

Peter Steinbach, Dieter Gläser, Walther Vogel, Michael Wolf, Sabine Schwemmle

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 367 KB

english, 1998

15

Candidate-Gene Studies of the Atherogenic Lipoprotein Phenotype: A Sib-Pair Linkage Analysis of DZ Women Twins

Melissa A. Austin, Philippa J. Talmud, Le-Ahn Luong, Lema Haddad, Ian N.M. Day, Beth Newman, Karen L. Edwards, Ronald M. Krauss, Steve E. Humphries

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1018 KB

english, 1998

16

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Michael D. Briggs, Geert R. Mortier, William G. Cole, Lily M. King, Steven S. Golik, Jacky Bonaventure, Lieve Nuytinck, Anne De Paepe, Jules G. Leroy, Leslie Biesecker, Mark Lipson, William R. Wilcox,

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 679 KB

english, 1998

17

A Sibship Test for Linkage in the Presence of Association: The Sib Transmission/Disequilibrium Test

Richard S. Spielman, Warren J. Ewens

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 121 KB

english, 1998

18

Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors

Sven Hoffmeyer, Peter Nürnberg, Heide Ritter, Raimund Fahsold, Werner Leistner, Dieter Kaufmann, Winfrid Krone

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 966 KB

english, 1998

19

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

Lambert van den Heuvel, Wim Ruitenbeek, Roel Smeets, Zully Gelman-Kohan, Orly Elpeleg, Jan Loeffen, Frans Trijbels, Edwin Mariman, Diederik de Bruijn, Jan Smeitink

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.34 MB

english, 1998

20

A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22

Markus M. Nöthen, Sven Cichon, Ina R. Vogt, Susanne Hemmer, Roland Kruse, Michael Knapp, Tobias Höller, Muhammad Faiyaz ul Haque, Sayedul Haque, Peter Propping, Mahmud Ahmad, Marcella Rietschel

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 792 KB

english, 1998

21

Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype

Shoshanna Gottlieb, Deborah A. Driscoll, Hope H. Punnett, Beatrice Sellinger, Beverly S. Emanuel, Marcia L. Budarf

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 392 KB

english, 1998

22

Evidence for Paleolithic and Neolithic Gene Flow in Europe

Guido Barbujani, Giorgio Bertorelle, Lounès Chikhi

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 61 KB

english, 1998

23

Mutation Hot Spots in 5q31-Linked Corneal Dystrophies

E. Korvatska, F.L. Munier, A. Djemaï, M.X. Wang, B. Frueh, A.G.-Y. Chiou, S. Uffer, E. Ballestrazzi, R.E. Braunstein, R.K. Forster, W.W. Culbertson, H. Boman, L. Zografos, D.F. Schorderet

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 76 KB

english, 1998

24

Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21

Wim Van Hul, Wendy Balemans, Els Van Hul, Frederik G. Dikkers, Henk Obee, Robert J. Stokroos, Peter Hildering, Filip Vanhoenacker, Guy Van Camp, Patrick J. Willems

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 736 KB

english, 1998

25

Reply to Burghes

Alex E. MacKenzie

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 51 KB

english, 1998

26

The −75A→C Substitution in the 5′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population

Georgios Loudianos, Valeria Dessi, Mario Lovicu, Andrea Angius, Antonio Cao, Mario Pirastu

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 44 KB

english, 1998

27

Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia

Bassem A. Bejjani, Richard Alan Lewis, Karim F. Tomey, Kent L. Anderson, David K. Dueker, Monzer Jabak, William F. Astle, Brith Otterud, Mark Leppert, James R. Lupski

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.57 MB

english, 1998

28

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

Wim Wuyts, Wim Van Hul, Kristel De Boulle, Jan Hendrickx, Egbert Bakker, Filip Vanhoenacker, Florindo Mollica, Hermann-Josef Lüdecke, Bekir Sitki Sayli, Ugo E. Pazzaglia, Geert Mortier, Ben Hamel, Ern

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 327 KB

english, 1998

29

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Borhane Annabi, Brian C. Mansfield, Hisayuki Hiraiwa, Ke-Jian Lei, Tsuneyuki Ubagai, Mihael H. Polymeropoulos, Shimon W. Moses, Ruti Parvari, Eli Hershkovitz, Hanna Mandel, Moshe Fryman, Janice Yang C

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.07 MB

english, 1998

30

Reply to Mackenzie

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 56 KB

english, 1998

31

Characterization of Mutations in Patients with Multiple Endocrine Neoplasia Type 1

J.H.D. Bassett, S.A. Forbes, A.A.J. Pannett, S.E. Lloyd, P.T. Christie, C. Wooding, B. Harding, G.M. Besser, C.R. Edwards, J.P. Monson, J. Sampson, J.A.H. Wass, M.H. Wheeler, R.V. Thakker

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.26 MB

english, 1998

32

HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q

Grant A. Mitchell, Pinar T. Ozand, Marie-France Robert, Lyudmila Ashmarina, Jacqueline Roberts, K. Michael Gibson, Ronald J. Wanders, Shupei Wang, Isabelle Chevalier, E. Plöchl, Henry Miziorko

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 940 KB

english, 1998

33

Reply to Hofmann et al.

David Mackey, Roelof-Jan Oostra, Thomas Rosenberg, Eeva Nikoskelainen, Joanna Poulton, Tim Barratt, Pieter Bolhuis, Søren Nørby, Marja-Liisa Savontaus, Christopher Chan, Neil Howell

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 64 KB

english, 1998

34

Reply to Loudianos et al.

Manoj S. Nanji, Diane W. Cox

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 52 KB

english, 1998

35

Reply to Barbujani et al.

Martin Richards, Bryan Sykes

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 47 KB

english, 1998

36

Instant Recognition: The Genetics of Pitch Perception

Peter K. Gregersen

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 49 KB

english, 1998

37

Comparative Genetics of Resistance to Viruses

David G. Brownstein

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 158 KB

english, 1998

38

Variability in Immune Response to Pathogens: Using Measles Vaccine to Probe Immunogenetic Determinants of Response

Gregory A. Poland

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 67 KB

english, 1998

39

Announcement

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 23 KB

english, 1998

40

Erratum

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

41

Erratum

Journal:

The American Journal of Human Genetics

Year:

1998

File:

PDF, 21 KB

1998

42

Assignment of the Locus for PLO-SL, a Frontal-Lobe Dementia with Bone Cysts, to 19q13

Petra Pekkarinen, Iiris Hovatta, Panu Hakola, Osmo Järvi, Marjo Kestilä, Ulla Lenkkeri, Rolf Adolfsson, Gösta Holmgren, Per-Olof Nylander, Lisbeth Tranebjærg, Joseph D. Terwilliger, Jouko Lönnqvist, L

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 913 KB

english, 1998